Abstract
<i>MORC2</i> pathogenic variants have been reported in patients with CMT2Z (MIM 616688) and developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (MIM 619090). A few reports have been published supporting an SMA-Like phenotype caused by <i>MORC2</i> variants<b>.</b> We report a patient with de novo, heterozygous c. 1164 C>G (p. Ser388Arg) <i>MORC2</i> pathogenic variant, who presented with globally delayed development, toe walking, bilateral sensorineural hearing loss, microcephaly, precocious puberty, and delayed myelination and mild cerebellar volume loss on magnetic resonance imaging of the brain. Interestingly, sensory and motor nerve conduction studies were within normal limits. Electromyography revealed high amplitude motor unit action potential (MUAP) resembling motor neuron diseases. We provide electrophysiologic evidence that <i>MORC2</i> pathogenic variants can exclusively affect motor neurons, suggestive of a distinct motor neuron phenotype as part of the spectrum of MORC2-related disorders.
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